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Telomerase and idiopathic pulmonary fibrosis
Open accessAbstract
Idiopathic pulmonary fibrosis (IPF) is the most common manifestation of telomere-mediated disorders. Germline mutations in the essential telomerase genes, hTERT and hTR, are the causal genetic defect in up to one-sixth of pulmonary fibrosis families. The presence of telomerase mutations in this subset is significant for clinical decisions as affected individuals can develop extra-pulmonary complications related to telomere shortening such as bone marrow failure and cryptogenic liver cirrhosis. There is also evidence that IPF is an ancestral manifestation of autosomal dominant telomere syndromes where, with successive generations, the disease evolves from pulmonary fibrosis into a bone marrow failure-predominant disorder, defining a unique form of genetic anticipation. Here I review the significance of telomere defects for understanding the genetics, disease patterns and pathophysiology of IPF. The importance of this diagnosis for patient care decisions will also be discussed.
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“Among these, the lung disease idiopathic pulmonary fibrosis (IPF) — best known until recently by its ‘idiopathic’ adjective — is the most common manifestation of telomere-mediated disease12.”
From The telomere syndromes (2012) · cites this paper as [12]
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“A model that requires multiple additional hits for phenotypes to manifest in slow-turnover tissues could explain why telomere-mediated lung disease represents an attenuated, adult-onset phenotype that is commonly seen after middle age12,99.”
From The telomere syndromes (2012) · cites this paper as [12]
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Metadata
- Authors
- Armanios, M.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Armanios, Mary
- ORCID
- Armanios, Mary
- Venue
- Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
- Publisher
- Elsevier BV
- Published
- 2012-02
- Volume
- 730
- Issue
- 1-2
- Pages
- 52-58
- ISSN
- 0027-5107 (ISSN-L)
- 1386-1964
- PMC
- PMC3292861
- OpenAlex
- W1973305610
- Cited by
- 245
- References
- 56
- Citations by year
- 2026: 1 · 2025: 11 · 2024: 4 · 2023: 13 · 2022: 19 · 2021: 19 · 2020: 16 · 2019: 25 · 2018: 18 · 2017: 18 · 2016: 18 · 2015: 25 · 2014: 24 · 2013: 16 · 2012: 16
- FWCI
- 1.99
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Mutation research. Fundamental and molecular mechanisms of mutagenesis (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Maryland Stem Cell Research Fund
- Flight Attendant Medical Research Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Occupational and environmental lung diseases
- Keywords
- idiopathic pulmonary fibrosis, telomerase, hTERT, hTR, germline mutations, telomere shortening, bone marrow failure, cryptogenic cirrhosis, genetic anticipation
- MeSH terms
- Age Factors, Bone Marrow Diseases, Emphysema, Genes, Dominant, Humans, Pulmonary Fibrosis, Telomerase, Dyskeratosis Congenita, Genetic Predisposition to Disease, Telomere Shortening
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